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Guy Helman

Showing results (11-20 of 61) with videos related to

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Plos One|June 13, 2015
Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase DeficiencyIleana Pacheco-Colón, Stuart D Washington, Courtney Sprouse, et al.
Molecular Genetics and Metabolism|June 3, 2014
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiencyCourtney Sprouse, Jessica King, Guy Helman, et al.
Neuropediatrics|January 13, 2022
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 VariantsMenno D Stellingwerff, Corinne Nulton, Guy Helman, et al.
Molecular Genetics and Metabolism|January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patientsKeith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.
Neurology|November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeRoberta La Piana, Carla Uggetti, Federico Roncarolo, et al.
Neuropediatrics|August 27, 2016
Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, et al.
Stem Cell Research|September 7, 2022
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutationsKaiyuan Wu, Asako Takanohashi, Sarah Woidill, et al.
Journal of Child Neurology|September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological DescriptionGuy Helman, Angela N Viaene, Asako Takanohashi, et al.
European Journal of Medical Genetics|June 14, 2021
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorderGuy Helman, Lauren E Taylor, Marzena Walkiewicz, et al.
Molecular Genetics and Metabolism|December 31, 2013
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like diseaseLeo Gotoh, Ken Inoue, Guy Helman, et al.
Pageof 7

Showing results (11-20 of 61) with videos related to

Sort By:
Pageof 7
Plos One|June 13, 2015
Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase DeficiencyIleana Pacheco-Colón, Stuart D Washington, Courtney Sprouse, et al.
Molecular Genetics and Metabolism|June 3, 2014
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiencyCourtney Sprouse, Jessica King, Guy Helman, et al.
Neuropediatrics|January 13, 2022
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 VariantsMenno D Stellingwerff, Corinne Nulton, Guy Helman, et al.
Molecular Genetics and Metabolism|January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patientsKeith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.
Neurology|November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeRoberta La Piana, Carla Uggetti, Federico Roncarolo, et al.
Neuropediatrics|August 27, 2016
Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, et al.
Stem Cell Research|September 7, 2022
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutationsKaiyuan Wu, Asako Takanohashi, Sarah Woidill, et al.
Journal of Child Neurology|September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological DescriptionGuy Helman, Angela N Viaene, Asako Takanohashi, et al.
European Journal of Medical Genetics|June 14, 2021
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorderGuy Helman, Lauren E Taylor, Marzena Walkiewicz, et al.
Molecular Genetics and Metabolism|December 31, 2013
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like diseaseLeo Gotoh, Ken Inoue, Guy Helman, et al.
Pageof 7